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rs267606701

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267606701(C;T)
Make rs267606701(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position78993858
GeneCANT1
is asnp
is mentioned by
dbSNPrs267606701
ebirs267606701
HLIrs267606701
Exacrs267606701
Varsomers267606701
Maprs267606701
PheGenIrs267606701
hapmaprs267606701
1000 genomesrs267606701
hgdprs267606701
ensemblrs267606701
gopubmedrs267606701
geneviewrs267606701
scholarrs267606701
googlers267606701
pharmgkbrs267606701
gwascentralrs267606701
openSNPrs267606701
23andMers267606701
23andMe allrs267606701
SNP Nexus

SNPshotrs267606701
SNPdbers267606701
MSV3drs267606701
GWAS Ctlgrs267606701
Max Magnitude0
ClinVar
Risk rs267606701(T;T)
Alt rs267606701(T;T)
Reference rs267606701(C;C)
Significance Pathogenic
Disease Desbuquois syndrome
Variation info
Gene CANT1
CLNDBN Desbuquois syndrome
Reversed 1
HGVS NC_000017.10:g.76989940G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000303.3,